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(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0012642) | Cerebellar agenesis | 2 / 7739 | ||||
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(OMIM) | Absent foramina of Luschka and Magendie | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |